Canonical Allele Identifier: CA2260770855
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066805_43066806delinsTC , CM000679.2:g.43066805_43066806delinsTC GRCh38
NC_000017.10:g.41218822_41218823delinsTC , CM000679.1:g.41218822_41218823delinsTC GRCh37
NC_000017.9:g.38472348_38472349delinsTC NCBI36
NG_005905.2:g.151178_151179delinsGA , LRG_292:g.151178_151179delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+802_5071+803delinsGA ENSP00000417241.2:n.5071+802_5071+803delinsGA
ENST00000470026.6:c.5074+802_5074+803delinsGA ENSP00000419274.2:n.5074+802_5074+803delinsGA
ENST00000473961.6:c.4948+802_4948+803delinsGA ENSP00000420201.2:n.4948+802_4948+803delinsGA
ENST00000476777.6:c.5068+802_5068+803delinsGA ENSP00000417554.2:n.5068+802_5068+803delinsGA
ENST00000477152.6:c.4996+802_4996+803delinsGA ENSP00000419988.2:n.4996+802_4996+803delinsGA
ENST00000478531.6:c.1762+802_1762+803delinsGA ENSP00000420412.2:n.1762+802_1762+803delinsGA
ENST00000489037.2:c.4996+802_4996+803delinsGA ENSP00000420781.2:n.4996+802_4996+803delinsGA
ENST00000493919.6:c.1624+802_1624+803delinsGA ENSP00000418819.2:n.1624+802_1624+803delinsGA
ENST00000494123.6:c.5074+802_5074+803delinsGA ENSP00000419103.2:n.5074+802_5074+803delinsGA
ENST00000497488.2:c.4186+802_4186+803delinsGA ENSP00000418986.2:n.4186+802_4186+803delinsGA
ENST00000618469.2:c.5074+802_5074+803delinsGA ENSP00000478114.2:n.5074+802_5074+803delinsGA
ENST00000634433.2:c.4951+802_4951+803delinsGA ENSP00000489431.2:n.4951+802_4951+803delinsGA
ENST00000644379.2:c.5140+802_5140+803delinsGA ENSP00000496570.2:n.5140+802_5140+803delinsGA
ENST00000644555.2:c.1624+802_1624+803delinsGA ENSP00000494614.2:n.1624+802_1624+803delinsGA
ENST00000652672.2:c.4933+802_4933+803delinsGA ENSP00000498906.2:n.4933+802_4933+803delinsGA
ENST00000484087.6:c.1636+802_1636+803delinsGA ENSP00000419481.2:n.1636+802_1636+803delinsGA
ENST00000357654.9:c.5074+802_5074+803delinsGA MANE Select ENSP00000350283.3:n.5074+802_5074+803delinsGA
ENST00000471181.7:c.5137+802_5137+803delinsGA ENSP00000418960.2:n.5137+802_5137+803delinsGA
ENST00000644379.1:c.1461+802_1461+803delinsGA
ENST00000352993.7:c.1648+802_1648+803delinsGA ENSP00000312236.5:n.1648+802_1648+803delinsGA
ENST00000357654.7:c.5074+802_5074+803delinsGA ENSP00000350283.3:n.5074+802_5074+803delinsGA
ENST00000461221.5:c.*4857+802_*4857+803delinsGA ENSP00000418548.1:n.*4857+802_*4857+803delinsGA
ENST00000468300.5:c.1762+802_1762+803delinsGA ENSP00000417148.1:n.1762+802_1762+803delinsGA
ENST00000471181.6:c.5137+802_5137+803delinsGA ENSP00000418960.2:n.5137+802_5137+803delinsGA
ENST00000478531.5:c.1762+802_1762+803delinsGA ENSP00000420412.1:n.1762+802_1762+803delinsGA
ENST00000484087.5:c.1387+802_1387+803delinsGA ENSP00000419481.1:n.1387+802_1387+803delinsGA
ENST00000491747.6:c.1762+802_1762+803delinsGA ENSP00000420705.2:n.1762+802_1762+803delinsGA
ENST00000493795.5:c.4933+802_4933+803delinsGA ENSP00000418775.1:n.4933+802_4933+803delinsGA
ENST00000493919.5:c.1624+802_1624+803delinsGA ENSP00000418819.1:n.1624+802_1624+803delinsGA
ENST00000586385.5:c.5-2855_5-2854delinsGA ENSP00000465818.1:n.5-2855_5-2854delinsGA
ENST00000591534.5:c.547+802_547+803delinsGA ENSP00000467329.1:n.547+802_547+803delinsGA
ENST00000591849.5:c.-98-16616_-98-16615delinsGA ENSP00000465347.1:n.-98-16616_-98-16615delinsGA
NM_007294.3:c.5074+802_5074+803delinsGA , LRG_292t1:c.5074+802_5074+803delinsGA NP_009225.1:n.5074+802_5074+803delinsGA
NM_007297.3:c.4933+802_4933+803delinsGA NP_009228.2:n.4933+802_4933+803delinsGA
NM_007298.3:c.1762+802_1762+803delinsGA NP_009229.2:n.1762+802_1762+803delinsGA
NM_007299.3:c.1762+802_1762+803delinsGA NP_009230.2:n.1762+802_1762+803delinsGA
NM_007300.3:c.5137+802_5137+803delinsGA NP_009231.2:n.5137+802_5137+803delinsGA
NR_027676.1:n.5210+802_5210+803delinsGA
NM_007294.4:c.5074+802_5074+803delinsGA MANE Select NP_009225.1:n.5074+802_5074+803delinsGA
NM_007297.4:c.4933+802_4933+803delinsGA NP_009228.2:n.4933+802_4933+803delinsGA
NM_007299.4:c.1762+802_1762+803delinsGA NP_009230.2:n.1762+802_1762+803delinsGA
NM_007300.4:c.5137+802_5137+803delinsGA NP_009231.2:n.5137+802_5137+803delinsGA
NR_027676.2:n.5251+802_5251+803delinsGA